ClinVar Genomic variation as it relates to human health
NM_013448.3(BAZ1A):c.3694G>A (p.Asp1232Asn)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BAZ1A | - | - |
GRCh38 GRCh37 |
56 | 92 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BAZ1A-related disorder
|
Likely benign (1) |
|
Aug 29, 2022 | RCV003973928.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024